Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.98393909_98399093delCA2499216316CNGA3c.785-1935_*1838del
c.839-1935_*1838del
 ClinVar
2g.98396848T>ACA347834060CNGA3c.1678T>A (p.Ser560Thr)
c.1690T>A (p.Ser564Thr)
c.1624T>A (p.Ser542Thr)
c.1789T>A (p.Ser597Thr)
c.1843T>A (p.Ser615Thr)
2g.98396848T>CCA347834061CNGA3c.1678T>C (p.Ser560Pro)
c.1690T>C (p.Ser564Pro)
c.1624T>C (p.Ser542Pro)
c.1789T>C (p.Ser597Pro)
c.1843T>C (p.Ser615Pro)
 dbSNP gnomAD v4
2g.98396848T>GCA347834062CNGA3c.1678T>G (p.Ser560Ala)
c.1690T>G (p.Ser564Ala)
c.1624T>G (p.Ser542Ala)
c.1789T>G (p.Ser597Ala)
c.1843T>G (p.Ser615Ala)
 gnomAD v4
2g.98396848T=CA1273420094CNGA3c.1678T= (p.Ser560=)
c.1690T= (p.Ser564=)
c.1624T= (p.Ser542=)
c.1789T= (p.Ser597=)
c.1843T= (p.Ser615=)
2g.98396849C>ACA347834063CNGA3c.1679C>A (p.Ser560Ter)
c.1691C>A (p.Ser564Ter)
c.1625C>A (p.Ser542Ter)
c.1790C>A (p.Ser597Ter)
c.1844C>A (p.Ser615Ter)
 ClinVar
2g.98396849C=CA1273420095CNGA3c.1679C= (p.Ser560=)
c.1691C= (p.Ser564=)
c.1625C= (p.Ser542=)
c.1790C= (p.Ser597=)
c.1844C= (p.Ser615=)
2g.98396849C>GCA347834064CNGA3c.1679C>G (p.Ser560Trp)
c.1691C>G (p.Ser564Trp)
c.1625C>G (p.Ser542Trp)
c.1790C>G (p.Ser597Trp)
c.1844C>G (p.Ser615Trp)
2g.98396849C>TCA1794064CNGA3c.1679C>T (p.Ser560Leu)
c.1691C>T (p.Ser564Leu)
c.1625C>T (p.Ser542Leu)
c.1790C>T (p.Ser597Leu)
c.1844C>T (p.Ser615Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98396850G>ACA427819809CNGA3c.1680G>A (p.Ser560=)
c.1692G>A (p.Ser564=)
c.1626G>A (p.Ser542=)
c.1791G>A (p.Ser597=)
c.1845G>A (p.Ser615=)
 dbSNP gnomAD v2 gnomAD v4
2g.98396850G>CCA427819810CNGA3c.1680G>C (p.Ser560=)
c.1692G>C (p.Ser564=)
c.1626G>C (p.Ser542=)
c.1791G>C (p.Ser597=)
c.1845G>C (p.Ser615=)
 gnomAD v4
2g.98396850G=CA1273420096CNGA3c.1680G= (p.Ser560=)
c.1692G= (p.Ser564=)
c.1626G= (p.Ser542=)
c.1791G= (p.Ser597=)
c.1845G= (p.Ser615=)
2g.98396850G>TCA427819811CNGA3c.1680G>T (p.Ser560=)
c.1692G>T (p.Ser564=)
c.1626G>T (p.Ser542=)
c.1791G>T (p.Ser597=)
c.1845G>T (p.Ser615=)
 dbSNP gnomAD v2 gnomAD v4
2g.98396851G>ACA347834065CNGA3c.1681G>A (p.Gly561Arg)
c.1693G>A (p.Gly565Arg)
c.1627G>A (p.Gly543Arg)
c.1792G>A (p.Gly598Arg)
c.1846G>A (p.Gly616Arg)
2g.98396851G>CCA347834066CNGA3c.1681G>C (p.Gly561Arg)
c.1693G>C (p.Gly565Arg)
c.1627G>C (p.Gly543Arg)
c.1792G>C (p.Gly598Arg)
c.1846G>C (p.Gly616Arg)
2g.98396851G>TCA347834067CNGA3c.1681G>T (p.Gly561Trp)
c.1693G>T (p.Gly565Trp)
c.1627G>T (p.Gly543Trp)
c.1792G>T (p.Gly598Trp)
c.1846G>T (p.Gly616Trp)
2g.98396852G>ACA347834069CNGA3c.1682G>A (p.Gly561Glu)
c.1694G>A (p.Gly565Glu)
c.1628G>A (p.Gly543Glu)
c.1793G>A (p.Gly598Glu)
c.1847G>A (p.Gly616Glu)
2g.98396852G>CCA347834070CNGA3c.1682G>C (p.Gly561Ala)
c.1694G>C (p.Gly565Ala)
c.1628G>C (p.Gly543Ala)
c.1793G>C (p.Gly598Ala)
c.1847G>C (p.Gly616Ala)
2g.98396852G>TCA347834068CNGA3c.1682G>T (p.Gly561Val)
c.1694G>T (p.Gly565Val)
c.1628G>T (p.Gly543Val)
c.1793G>T (p.Gly598Val)
c.1847G>T (p.Gly616Val)
2g.98396852_98396853insACGCGCA2499216323CNGA3c.1682_1683insACGCG (p.Asn562ArgfsTer?)
c.1694_1695insACGCG (p.Asn566ArgfsTer?)
c.1628_1629insACGCG (p.Asn544ArgfsTer?)
c.1793_1794insACGCG (p.Asn599ArgfsTer?)
c.1847_1848insACGCG (p.Asn617ArgfsTer?)
 ClinVar dbSNP
2g.98396853G>ACA1794065CNGA3c.1683G>A (p.Gly561=)
c.1695G>A (p.Gly565=)
c.1629G>A (p.Gly543=)
c.1794G>A (p.Gly598=)
c.1848G>A (p.Gly616=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.98396853G>CCA427819826CNGA3c.1683G>C (p.Gly561=)
c.1695G>C (p.Gly565=)
c.1629G>C (p.Gly543=)
c.1794G>C (p.Gly598=)
c.1848G>C (p.Gly616=)
2g.98396853G=CA1273420097CNGA3c.1683G= (p.Gly561=)
c.1695G= (p.Gly565=)
c.1629G= (p.Gly543=)
c.1794G= (p.Gly598=)
c.1848G= (p.Gly616=)
2g.98396853G>TCA427819828CNGA3c.1683G>T (p.Gly561=)
c.1695G>T (p.Gly565=)
c.1629G>T (p.Gly543=)
c.1794G>T (p.Gly598=)
c.1848G>T (p.Gly616=)
2g.98396854A>CCA347834071CNGA3c.1684A>C (p.Asn562His)
c.1696A>C (p.Asn566His)
c.1630A>C (p.Asn544His)
c.1795A>C (p.Asn599His)
c.1849A>C (p.Asn617His)
2g.98396854A>GCA347834072CNGA3c.1684A>G (p.Asn562Asp)
c.1696A>G (p.Asn566Asp)
c.1630A>G (p.Asn544Asp)
c.1795A>G (p.Asn599Asp)
c.1849A>G (p.Asn617Asp)
2g.98396854A>TCA347834073CNGA3c.1684A>T (p.Asn562Tyr)
c.1696A>T (p.Asn566Tyr)
c.1630A>T (p.Asn544Tyr)
c.1795A>T (p.Asn599Tyr)
c.1849A>T (p.Asn617Tyr)
2g.98396855A=CA1273420098CNGA3c.1685A= (p.Asn562=)
c.1697A= (p.Asn566=)
c.1631A= (p.Asn544=)
c.1796A= (p.Asn599=)
c.1850A= (p.Asn617=)
2g.98396855A>CCA347834074CNGA3c.1685A>C (p.Asn562Thr)
c.1697A>C (p.Asn566Thr)
c.1631A>C (p.Asn544Thr)
c.1796A>C (p.Asn599Thr)
c.1850A>C (p.Asn617Thr)
2g.98396855A>GCA347834075CNGA3c.1685A>G (p.Asn562Ser)
c.1697A>G (p.Asn566Ser)
c.1631A>G (p.Asn544Ser)
c.1796A>G (p.Asn599Ser)
c.1850A>G (p.Asn617Ser)
 dbSNP
2g.98396855A>TCA347834076CNGA3c.1685A>T (p.Asn562Ile)
c.1697A>T (p.Asn566Ile)
c.1631A>T (p.Asn544Ile)
c.1796A>T (p.Asn599Ile)
c.1850A>T (p.Asn617Ile)
2g.98396856C>ACA347834077CNGA3c.1686C>A (p.Asn562Lys)
c.1698C>A (p.Asn566Lys)
c.1632C>A (p.Asn544Lys)
c.1797C>A (p.Asn599Lys)
c.1851C>A (p.Asn617Lys)
 ClinVar dbSNP gnomAD v4
2g.98396856C=CA1273420099CNGA3c.1686C= (p.Asn562=)
c.1698C= (p.Asn566=)
c.1632C= (p.Asn544=)
c.1797C= (p.Asn599=)
c.1851C= (p.Asn617=)
2g.98396856C>GCA347834078CNGA3c.1686C>G (p.Asn562Lys)
c.1698C>G (p.Asn566Lys)
c.1632C>G (p.Asn544Lys)
c.1797C>G (p.Asn599Lys)
c.1851C>G (p.Asn617Lys)
2g.98396856C>TCA427819839CNGA3c.1686C>T (p.Asn562=)
c.1698C>T (p.Asn566=)
c.1632C>T (p.Asn544=)
c.1797C>T (p.Asn599=)
c.1851C>T (p.Asn617=)
2g.98396857C>ACA347834079CNGA3c.1687C>A (p.Arg563Ser)
c.1699C>A (p.Arg567Ser)
c.1633C>A (p.Arg545Ser)
c.1798C>A (p.Arg600Ser)
c.1852C>A (p.Arg618Ser)
 COSMIC
2g.98396857C=CA1273420100CNGA3c.1687C= (p.Arg563=)
c.1699C= (p.Arg567=)
c.1633C= (p.Arg545=)
c.1798C= (p.Arg600=)
c.1852C= (p.Arg618=)
2g.98396857C>GCA347834080CNGA3c.1687C>G (p.Arg563Gly)
c.1699C>G (p.Arg567Gly)
c.1633C>G (p.Arg545Gly)
c.1798C>G (p.Arg600Gly)
c.1852C>G (p.Arg618Gly)
2g.98396857C>TCA1794066CNGA3c.1687C>T (p.Arg563Cys)
c.1699C>T (p.Arg567Cys)
c.1633C>T (p.Arg545Cys)
c.1798C>T (p.Arg600Cys)
c.1852C>T (p.Arg618Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396858G>ACA1794067CNGA3c.1688G>A (p.Arg563His)
c.1700G>A (p.Arg567His)
c.1634G>A (p.Arg545His)
c.1799G>A (p.Arg600His)
c.1853G>A (p.Arg618His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98396858G>CCA347834082CNGA3c.1688G>C (p.Arg563Pro)
c.1700G>C (p.Arg567Pro)
c.1634G>C (p.Arg545Pro)
c.1799G>C (p.Arg600Pro)
c.1853G>C (p.Arg618Pro)
2g.98396858G=CA1273420101CNGA3c.1688G= (p.Arg563=)
c.1700G= (p.Arg567=)
c.1634G= (p.Arg545=)
c.1799G= (p.Arg600=)
c.1853G= (p.Arg618=)
2g.98396858G>TCA347834081CNGA3c.1688G>T (p.Arg563Leu)
c.1700G>T (p.Arg567Leu)
c.1634G>T (p.Arg545Leu)
c.1799G>T (p.Arg600Leu)
c.1853G>T (p.Arg618Leu)
 gnomAD v4
2g.98396859C>ACA427819852CNGA3c.1689C>A (p.Arg563=)
c.1701C>A (p.Arg567=)
c.1635C>A (p.Arg545=)
c.1800C>A (p.Arg600=)
c.1854C>A (p.Arg618=)
2g.98396859C=CA1273420102CNGA3c.1689C= (p.Arg563=)
c.1701C= (p.Arg567=)
c.1635C= (p.Arg545=)
c.1800C= (p.Arg600=)
c.1854C= (p.Arg618=)
2g.98396859C>GCA427819849CNGA3c.1689C>G (p.Arg563=)
c.1701C>G (p.Arg567=)
c.1635C>G (p.Arg545=)
c.1800C>G (p.Arg600=)
c.1854C>G (p.Arg618=)
2g.98396859C>TCA427819850CNGA3c.1689C>T (p.Arg563=)
c.1701C>T (p.Arg567=)
c.1635C>T (p.Arg545=)
c.1800C>T (p.Arg600=)
c.1854C>T (p.Arg618=)
 dbSNP gnomAD v4
2g.98396860A>CCA427819853CNGA3c.1690A>C (p.Arg564=)
c.1702A>C (p.Arg568=)
c.1636A>C (p.Arg546=)
c.1801A>C (p.Arg601=)
c.1855A>C (p.Arg619=)
2g.98396860A>GCA347834083CNGA3c.1690A>G (p.Arg564Gly)
c.1702A>G (p.Arg568Gly)
c.1636A>G (p.Arg546Gly)
c.1801A>G (p.Arg601Gly)
c.1855A>G (p.Arg619Gly)
 gnomAD v4
2g.98396860A>TCA347834084CNGA3c.1690A>T (p.Arg564Trp)
c.1702A>T (p.Arg568Trp)
c.1636A>T (p.Arg546Trp)
c.1801A>T (p.Arg601Trp)
c.1855A>T (p.Arg619Trp)

Number of alleles fetched